Youth Spotlight: Noah (PPA2 deficiency)
- Kathleen Simonetti
- May 5
- 3 min read
Here, Kathleen, mum to three-year-old Noah, talks about how he was diagnosed with PPA2 deficiency, his hobbies and worries about future life.
Tell us about Noah's condition, PPA2 deficiency.
My son Noah has PPA2 deficiency, a rare mitochondrial disease that can result in sudden cardiac death. PPA2 deficiency occurs when there is a mutation in the PPA2 gene, which encodes a protein crucial for energy production. Viral illnesses and consumption of alcohol or vinegar are considered triggers that can lead to cardiac arrest or death.
At 10 months old, Noah experienced a cardiac arrest in his sleep. I heard him making strange noises over the baby monitor, and I rushed in to find him limp and blue, so I started CPR. Emergency personnel arrived, and he was found to be in ventricular fibrillation, so they had to shock him twice with the AED. He stabilised and was transferred to the hospital, where he recovered well.
Doctors could not figure out what happened, and the limited genetic testing they performed provided no answers. He had surgery to place an implantable cardioverter defibrillator, and we were sent home. At 18 months old, he experienced an additional three arrests after a bout of pneumonia. He did not recover as quickly this time, and he was intubated for a week. After that, he had to relearn how to sit, eat and walk. We pushed for more genetic testing to be performed, and they did whole-exome sequencing. After a few months, we finally received a diagnosis, just after his second birthday.
Doctors could not figure out what happened, and the limited genetic testing they performed provided no answers.
What are his likes and hobbies?
Noah loves to play soccer, read books, and go on adventures. He loves the colour purple and dinosaurs. He is very smart!
How do you feel about life with his condition, and how do you manage daily?
Honestly, we live in fear of the unknown regarding his condition. He looks normal from the outside, and his heart is currently functioning perfectly, but that could all change in an instant. A cold or stomach virus for anyone else is just an inconvenience, whereas for us it could mean a hospital visit, heart failure, or worse - death.
What are your thoughts about the future?
I’m scared for the future, and it’s hard not to get upset about it, wondering how long we have with him and what milestones he will accomplish. Will he make it to kindergarten? High school graduation? Will he get married and have kids? So many unknowns, but I am also hopeful. Hopeful that research will lead to treatment or a cure.
So many unknowns, but I am also hopeful. Hopeful that research will lead to treatment or cure.
Have you got any advice to stay positive through tough times?
Every smile, every good day, every ‘I love you’ unprompted from him makes the journey worth it. While we wish we didn’t have this diagnosis, we would take having him this way over never having had him at all.
Do you know any facts about his condition?
There are only 65 cases recorded as per the most recent literature in 2024.¹
Do you have words of encouragement for other parents?
It’s not easy, but don’t give up hope. We need to be our child’s voice and advocate for them.
Socials
Instagram: @get_to_noah_me
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